Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565

2006
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. 12172928

2002
dbSNP: rs121913224
rs121913224
APC
0.710 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471

2018
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001
dbSNP: rs121913331
rs121913331
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913332
rs121913332
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913333
rs121913333
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1254176854
rs1254176854
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1305971005
rs1305971005
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1331131200
rs1331131200
APC
0.010 GeneticVariation BEFREE The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT. 26394139

2015
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. 7833931

1994
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. 1338691

1992
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. 1338904

1992
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. 27217144

2016
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. 8990002

1997
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308

2014
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 21643010

2011
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. 7833149

1994